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General Biology II: 12.10 Epistasis

General Biology II
12.10 Epistasis
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table of contents
  1. Cover
  2. Title Page
  3. Copyright
  4. Table Of Contents
  5. Reference Information
  6. The Process of Science
  7. 3. Biological Molecules
  8. 4. Structure of DNA
  9. 5. DNA Replication
  10. 6. Protein Synthesis
    1. 6.1 What are proteins and what do they do?
    2. 6.2 What is a gene?
    3. 6.3 How do genes direct the production of proteins?
    4. 6.4 Transcription: from DNA to mRNA
    5. 6.5 Eukaryotic RNA Processing
    6. 6.6 Translation
    7. 6.7 The Genetic Code
    8. Optional Section - Micropigs
  11. 7. Mutations
    1. How Gene Mutations Occur
    2. Intro to Genetic Disorders
    3. Do all gene affect health and development?
    4. Types of Mutations
    5. Changes in Numbers of Genes
    6. Changes in Chromosome Number
    7. Complex Multifactorial Disorders
    8. Genetic Predispositions
    9. Genetics and Statistics
  12. Gene Regulation
    1. 8.1 Prokaryotic versus Eukaryotic Gene Expression
    2. 8.2 What is the epigenome?
    3. 8.3 Alternative RNA splicing
  13. 9. Biotechnology
    1. 9.1 Manipulating Genetic Material
    2. 9.2 Cloning
    3. 9.3 Genetic Engineering
    4. 9.4 Biotechnology in Medicine and Agriculture
    5. 9.5 Genomics and Proteomics
    6. 9.6 Applying Genomics
    7. 9.7 Proteomics
  14. 10. Cell Division - Binary Fission and Mitosis
    1. 10.1 Prokaryotic Cell Division
    2. 10.2 Eukaryotic Cell Division
    3. 10.3 Control of the Cell Cycle
    4. 10.4 Cancer and the Cell Cycle
  15. 11. Meiosis
    1. 11.1 Sexual Reproduction
    2. 11.2 Overview of Meiosis
    3. 11.3 Interphase
    4. 11.4 Meiosis I
    5. 11.5 Meiosis II
    6. 11.6 Comparing Meiosis and Mitosis
    7. 11.7 Errors in Meiosis
  16. 12. Patterns of Inheritance
    1. 12.1 Mendelian Genetics
    2. 12.2 Garden Pea Characteristics Revealed the Basics of Heredity
    3. 12.3 Phenotypes and Genotypes
    4. 12.4 Monohybrid Cross and the Punnett Square
    5. 12.5 Laws of Inheritance
    6. 12.6 Extensions of the Laws of Inheritance
    7. 12.7 Multiple Alleles
    8. 12.8 Sex-Linked Traits
    9. 12.9 Linked Genes Violate the Law of Independent Assortment
    10. 12.10 Epistasis
  17. Genetics: Dog Coat Color
    1. Introduction to Genetics
    2. Pedigrees and Punnett Squares
    3. Black fur color: a dominant trait
    4. Yellow fur color: a recessive trait
    5. Epistasis: the relationship between black, brown, and yellow fur
    6. Brindle color: partial dominance and epistasis
    7. Incomplete dominance: when traits blend
    8. White spotting: When there's more than two alleles
    9. Hemophilia: a sex-linked disorder
    10. Overall phenotypes: putting it all together
    11. Additional complexity
    12. It's not all in the genes

12.10 Epistasis

Mendel’s studies in pea plants implied that the sum of an individual’s phenotype was controlled by genes (or as he called them, unit factors), such that every characteristic was distinctly and completely controlled by a single gene. In fact, single observable characteristics are almost always under the influence of multiple genes (each with two or more alleles) acting in unison. For example, at least eight genes contribute to eye color in humans.

In some cases, several genes can contribute to aspects of a common phenotype without their gene products ever directly interacting. In the case of organ development, for instance, genes may be expressed sequentially, with each gene adding to the complexity and specificity of the organ. Genes may function in complementary or synergistic fashions, such that two or more genes expressed simultaneously affect a phenotype. An apparent example of this occurs with human skin color, which appears to involve the action of at least three (and probably more) genes. Cases in which inheritance for a characteristic like skin color or human height depend on the combined effects of numerous genes are called polygenic inheritance.

Genes may also oppose each other, with one gene suppressing the expression of another. In epistasis, the interaction between genes is antagonistic, such that one gene masks or interferes with the expression of another. “Epistasis” is a word composed of Greek roots meaning “standing upon.” The alleles that are being masked or silenced are said to be hypostatic to the epistatic alleles that are doing the masking. Often the biochemical basis of epistasis is a gene pathway in which expression of one gene is dependent on the function of a gene that precedes or follows it in the pathway.

An example of epistasis is pigmentation in mice. The wild-type coat color, agouti (AA) is dominant to solid-colored fur (aa). However, a separate gene C, when present as the recessive homozygote (cc), negates any expression of pigment from the A gene and results in an albino mouse (Figure 18). Therefore, the genotypes AAcc, Aacc, and aacc all produce the same albino phenotype. A cross between heterozygotes for both genes (AaCc x AaCc) would generate offspring with a phenotypic ratio of 9 agouti:3 black:4 albino (Figure 18). In this case, the C gene is epistatic to the A gene.

10r.epistasis
Figure 18: In this example of epistasis, one gene (C) masks the expression of another (A) for coat color. When the C allele is present, coat color is expressed; when it is absent (cc), no coat color is expressed. Coat color depends on the A gene, which shows dominance, with the recessive homozygote showing a different phenotype than the heterozygote or dominant homozygote.

References

Unless otherwise noted, images on this page are licensed under CC-BY 4.0 by OpenStax.

OpenStax, Biology. OpenStax CNX. May 27, 2016 http://cnx.org/contents/GFy_h8cu@10.57:cUeevuaC@3/Laws-of-Inheritance

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Copyright © 2016 by Lisa Bartee and Christine Anderson. Mt Hood Community College Biology 102 by Lisa Bartee and Christine Anderson is licensed under a Creative Commons Attribution 4.0 International License, except where otherwise noted.
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